ONTOLOGY REPORT - ANNOTATIONS


Term:Stickler syndrome
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Accession:DOID:0080046 term browser browse the term
Synonyms:narrow_synonym: Stickler syndrome, dominant
 primary_id: RDO:9004984
 xref: GARD:10782;   OMIM:PS108300
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Stickler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:13592920
RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:13592920
RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
RGD:13592920
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
Pierre Robin Syndrome with Fetal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
Stickler Syndrome, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:12436723
RGD:11667954
RGD:8657405
RGD:8657401
RGD:13524555
RGD:8657393
RGD:8657352
RGD:8657343
RGD:8657341
RGD:8657340
Stickler Syndrome, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
RGD:8554872
Stickler Syndrome, Type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:7240710
RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
Stickler Syndrome, Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Stickler syndrome 5
        Marshall/Stickler Syndrome 1
        Pierre Robin Syndrome with Fetal Chondrodysplasia 1
        Stickler Syndrome, Type I 1
        Stickler Syndrome, Type II 1
        Stickler Syndrome, Type IV 2
        Stickler Syndrome, Type V 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Stickler syndrome 5
                  Marshall/Stickler Syndrome 1
                  Pierre Robin Syndrome with Fetal Chondrodysplasia 1
                  Stickler Syndrome, Type I 1
                  Stickler Syndrome, Type II 1
                  Stickler Syndrome, Type IV 2
                  Stickler Syndrome, Type V 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.